Learning from tragedy--a baby lacking critical brain cells and a medical detective story (2019)

[Snowdrop]

This is a story about neurology that I thought might be of general interest.
I found this on CBC's Quirks and Quarks:

Before he was born, his parents knew their boy was in trouble. That was clear from what their doctors' saw in their baby's ultrasound. And tragically, the boy died when he was only ten months old. But in his short life, he left behind a valuable legacy by helping scientists understand a crucial type of brain cell. That's because — as it turned out — the child had none.

Link here: https://bit.ly/30LVNVl

Link to the research paper abstract: https://www.cell.com/ajhg/fulltext/S0002-9297(19)30106-5#

 

[aza]

Thanks @Snowdrop , very interesting and sad. Genetic disorders and congenital abnormalities are amongst the most heartbreaking diseases and yet they have a pivotal role as investigation tool.